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Studies of Hereditary Hemorrhagic Telangiectasia

This study has been completed.
University of Vermont
Information provided by:
Office of Rare Diseases (ORD) Identifier:
First received: February 24, 2000
Last updated: June 23, 2005
Last verified: December 2001

OBJECTIVES: I. Examine screening modalities for pulmonary vascular arteriovenous malformation (PAVM) in individuals with endoglin mutations.

II. Examine the prevalence of cerebral arteriovenous malformations (CAVM) in individuals with hereditary hemorrhagic telangiectasia (HHT).

III. Investigate whether modifier genes exist that determine which individuals with HHT due to an endoglin mutation develop PAVMs and which develop CAVMs.

IV. Investigate the frequency of cardiac valve abnormalities in individuals affected with HHT due to an endoglin mutations.

Telangiectasia, Hereditary Hemorrhagic

Study Type: Observational
Study Design: Primary Purpose: Screening
Official Title: Studies of Hereditary Hemorrhagic Telangiectasia: Screening Methods for Pulmonary Arteriovenous Malformations; Prevalence of Pulmonary and Cerebral Arteriovenous Malformations; Prevalence of Cardiac Valve Abnormalities; and Identification of Modifier Genes

Resource links provided by NLM:

Further study details as provided by Office of Rare Diseases (ORD):

Estimated Enrollment: 65
Study Start Date: May 1996
Detailed Description:

PROTOCOL OUTLINE: Patients with hereditary hemorrhagic telangiectasia (HHT) undergo 5 different screening methods to determine which method is most effective in detecting arteriovenous malformations (AVM). Patients may participate in more than one screening method.

In part 1, patients undergo 3 different screening techniques (e.g., pulse oximetry, spiral computed tomography (CT), and contrast echocardiography) to detect pulmonary arteriovenous malformations (PAVM).

Patients in part 2 undergo magnetic resonance imaging (MRI) using gadolinium as the contrasting agent for AVM in the brain, known as cerebral arteriovenous malformations (CAVM). For pregnant women, this procedure may only take place if there is clinical evidence that suggests CAVM.

In part 3, Doppler ultrasound is used to screen for hepatic arteriovenous malformations (HAVM). The abdomen of each patient is viewed to detect AVM in the liver.

Patients in part 4 undergo echocardiograms as the screening method used to determine common heart valve abnormalities.

In part 5, blood samples are drawn from patients and analyzed to locate modifier genes as a possibility in determining severity of HHT.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
  • Osler-Rendu-Weber disease (or hereditary hemorrhagic telangiectasia)
  Contacts and Locations
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Please refer to this study by its identifier: NCT00004648

Sponsors and Collaborators
National Center for Research Resources (NCRR)
University of Vermont
Study Chair: Alan Guttmacher University of Vermont
  More Information Identifier: NCT00004648     History of Changes
Other Study ID Numbers: 199/11711
Study First Received: February 24, 2000
Last Updated: June 23, 2005

Keywords provided by Office of Rare Diseases (ORD):
genetic diseases and dysmorphic syndromes
hematologic disorders
hereditary hemorrhagic telangiectasia
rare disease
Osler-Rendu-Weber disease

Additional relevant MeSH terms:
Intracranial Arteriovenous Malformations
Arteriovenous Malformations
Telangiectasia, Hereditary Hemorrhagic
Vascular Diseases
Cardiovascular Diseases
Vascular Malformations
Cardiovascular Abnormalities
Congenital Abnormalities
Hemostatic Disorders
Hemorrhagic Disorders
Hematologic Diseases
Cerebrovascular Disorders
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Central Nervous System Vascular Malformations
Nervous System Malformations
Intracranial Arterial Diseases processed this record on September 21, 2017